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BACKGROUND: Congenital ichthyosis (CI) is a collective group of rare hereditary skin disorders. Patients present with epidermal scaling, fissuring, chronic inflammation, and increased susceptibility to infections. Recently, there is increased interest in the skin microbiome; therefore, we hypothesized that CI patients likely exhibit an abnormal profile of epidermal microbes because of their various underlying skin barrier defects. Among recruited individuals of Southeast Asian ethnicity, we performed skin meta-genomics (i.e., whole-exome sequencing to capture the entire multi-kingdom profile, including fungi, protists, archaea, bacteria, and viruses), comparing 36 CI patients (representing seven subtypes) with that of 15 CI age-and gender-matched controls who had no family history of CI. RESULTS: This case-control study revealed 20 novel and 31 recurrent pathogenic variants. Microbiome meta-analysis showed distinct microbial populations, decreases in commensal microbiota, and higher colonization by pathogenic species associated with CI; these were correlated with increased production of inflammatory cytokines and Th17- and JAK/STAT-signaling pathways in peripheral blood mononuclear cells. In the wounds of CI patients, we identified specific changes in microbiota and alterations in inflammatory pathways, which are likely responsible for impaired wound healing. CONCLUSIONS: Together, this research enhances our understanding of the microbiological, immunological, and molecular properties of CI and should provide critical information for improving therapeutic management of CI patients.
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Ictiosis , Microbiota , Humanos , Estudios de Casos y Controles , Leucocitos Mononucleares , Pueblos del Sudeste Asiático , Inflamación/genética , Microbiota/genética , Ictiosis/genéticaRESUMEN
Excessive exposure to ultraviolet (UV) light leads to acute and chronic UV damage and is the main risk factor for the development of skin cancer. In most countries with western lifestyle, the topical application of sunscreens on UV-exposed skin areas is by far the most frequently used preventive measure against sunburn. Further than preventing sunburns, increasing numbers of consumers are appreciating sunscreens with a medium- to high-level sun protective factor (SPF) as basis for sustainable-skin ageing or skin cancer prevention programs. However, recent investigations indicate that clinically significant DNA damages as well as a lasting impairment of cutaneous immunosurveillance already occur far below the standard of one minimal erythema dose (MED) sunburn level, which contributes to the current discussion of the clinical value of high-protective SPF values. Ex vivo investigations on human skin showed that the application of SPF30 reduces DNA damage for a day long sun exposure (24 MED) drastically by about 53% but is significantly surpassed by SPF100 reducing DNA damage by approx. 73%. Further analysis on different SPF protection levels in UV-exposed cell culture assays focusing on IL-18, cell vitality and cis/trans-urocanic acid support these findings. Whereas SPF30 and SPF50+ sunscreens already offer a solid UVB cover for most indications, our results indicate that SPF100 provides significant additional protection against mutagenic (non-apoptotic-) DNA damage and functional impairment of the cutaneous immunosurveillance and therefore qualifies as an optimized sunscreen for specifically vulnerable patient groups such as immunosuppressed patients, or skin cancer patients.
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Neoplasias Cutáneas , Quemadura Solar , Humanos , Quemadura Solar/prevención & control , Quemadura Solar/etiología , Protectores Solares/uso terapéutico , Piel , Rayos Ultravioleta/efectos adversos , Neoplasias Cutáneas/prevención & control , Neoplasias Cutáneas/tratamiento farmacológicoRESUMEN
OBJECTIVES: To describe the course of symptoms reported by patients with symptoms attributed to Lyme borreliosis (LB) without being subsequently diagnosed with LB. METHODS: We performed a prospective cohort study with patients presenting at the outpatient clinic of two clinical LB centres. The primary outcome was the prevalence of persistent symptoms, which were defined as clinically relevant fatigue (CIS, subscale fatigue), pain (SF-36, subscale bodily pain), and cognitive impairment (CFQ) for ≥ 6 months and onset < 6 months over the first year of follow-up. Outcomes were compared with a longitudinal cohort of confirmed LB patients and a general population cohort. Prevalences were standardised to the distribution of pre-defined confounders in the confirmed LB cohort. RESULTS: Participants (n = 123) reported mostly fatigue, arthralgia, myalgia, and paraesthesia as symptoms. The primary outcome could be determined for 74.8% (92/123) of participants. The standardised prevalence of persistent symptoms in our participants was 58.6%, which was higher than in patients with confirmed LB at baseline (27.2%, p < 0.0001) and the population cohort (21.2%, p < 0.0001). Participants reported overall improvement of fatigue (p < 0.0001) and pain (p < 0.0001) but not for cognitive impairment (p = 0.062) during the follow-up, though symptom severity at the end of follow-up remained greater compared to confirmed LB patients (various comparisons p < 0.05). CONCLUSION: Patients with symptoms attributed to LB who present at clinical LB centres without physician-confirmed LB more often report persistent symptoms and report more severe symptoms compared to confirmed LB patients and a population cohort.
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Fatiga , Enfermedad de Lyme , Humanos , Enfermedad de Lyme/epidemiología , Enfermedad de Lyme/diagnóstico , Masculino , Estudios Prospectivos , Femenino , Persona de Mediana Edad , Fatiga/etiología , Fatiga/epidemiología , Estudios de Seguimiento , Adulto , Encuestas y Cuestionarios , Anciano , Prevalencia , Disfunción Cognitiva/epidemiología , Disfunción Cognitiva/etiología , Dolor/etiología , Dolor/epidemiología , Artralgia/microbiología , Artralgia/epidemiología , Artralgia/etiología , Adulto JovenRESUMEN
In this paper, we describe conversion factors (CF) for the calculation of biologically effective irradiances (BEI) from erythemal irradiance for three effects: photosynthesis of previtamin D3, psoriasis healing, and inactivation of the SARS-Cov-2 virions. CFs were empirically derived from measurements of spectral solar ultraviolet (UV) radiation during all sky conditions at four mid-latitude sites in the Northern Hemisphere, namely Aosta, Belsk, Reading, and San Diego. These CFs were found to depend on solar zenith angle (SZA) and total column ozone, but are largely independent (within ± 5% for SZA < 60°) of local conditions such as surface albedo, visibility and other local atmospheric patterns. The values of these empirical CFs are consistent with analytical CFs derived with radiative transfer calculations (model FastRT) for clear-sky and overcast conditions. To validate these analytical CFs, one-hour radiant exposures for the three biological effects were calculated from erythemal measurements at Reading between 2012 and 2021 and compared with similar exposures calculated directly from the spectral UV measurements. The two datasets agreed within 10% for SZA < 65°, demonstrating the utility of the conversion method. These results suggest that the proposed analytical CFs can be used with confidence to estimate radiant exposures for the three biological effects from measurements of the UV Index at any northern mid-latitude site.
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This case reports a 14-month-old child with Staphylococcal Scalded Skin Syndrome (SSSS). The child presented generalized scaling erythema accompanied by skin pain, and perioral crusts and fissures and she required hospital admission for antibiotic treatment with intravenous cloxacillin and hidroelectrolyte replacement.SSSS is a blistering skin disorder, mainly affecting children, caused by specific Staphylococcus aureus strains producing exfoliative toxins. It shows erythema in skin folds progressing to blisters within 48 h, often with perioral crusts and fissures. Its diagnosis relies on clinical assessment and it often requires intravenous antibiotics for its treatment.
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PURPOSE: Diagnosis of (European) Lyme neuroborreliosis has been based on clinical presentation, cerebrospinal fluid (CSF) pleocytosis and demonstration of intrathecal borrelial antibody synthesis (ITBAS) to document Borrelia burgdorferi s. l. INFECTION: It is not known if other criteria to document Borrelia infection may contribute to the diagnosis. METHODS: We compared the sensitivity of three individual criteria (ITBAS, CSF Borrelia culture, and the presence of erythema migrans [EM]) to confirm the diagnosis of early Lyme neuroborreliosis in 280 patients ≥ 15 years of age evaluated at a Lyme borreliosis outpatient clinic in Slovenia. The patients had either radicular pain of new onset or involvement of a cranial nerve but without radicular pain, each in conjunction with CSF pleocytosis. Evaluation was of patients who had each of the three confirmatory criteria assessed, and for whom at least one criterion was positive. RESULTS: Analysis of 280 patients, 120 women and 160 men, median age 57 (range 15-84) years, revealed that ITBAS was the most frequently observed positive criterion (85.4%), followed by EM (52.9%), and by a positive CSF Borrelia culture (9.6%). Of the 280 patients, 154 (55%) met only one criterion (43.2% ITBAS only, 10.7% EM only, and 1.1% positive CSF culture only), whereas 42.1% met two criteria. Only 2.9% of patients were positive by all three criteria. CONCLUSION: Although ITBAS was the most frequent criterion for confirmation for Borrelia infection, the presence of EM alone confirmed an additional 10.7% of patients and a positive CSF Borrelia culture alone added another 1.1%.
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BACKGROUND: Individuals with inflammatory bowel disease (IBD) exhibit a heightened likelihood of developing erythema nodosum (EN), but the presence of causal link is unknown. The purpose of the present research was to investigate this connection using a bidirectional two-sample Mendelian randomization (MR) analysis. METHODS: Summarized statistics for EN were sourced from the FinnGen consortium of European ancestry. The International Inflammatory Bowel Disease Genetic Consortium (IBDGC) was used to extract summary data for IBD. The inverse variance weighted (IVW) technique was the major method used to determine the causative link between them. RESULTS: The study evaluated the reciprocal causal link between IBD and EN. The IVW technique confirmed a positive causal link between IBD and EN (OR = 1.237, 95% CI: 1.109-1.37, p = 1.43 × 10- 8), as well as a strong causality connection between Crohn's disease (CD) and EN (OR = 1.248, 95% CI: 1.156-1.348, p = 1.00 × 10- 4). Nevertheless, a causal connection between ulcerative colitis (UC) and EN could not be established by the data. The reverse MR research findings indicated that analysis indicated that an increase in EN risks decreased the likelihood of UC (OR = 0.927, 95% CI: 0.861-0.997, p = 0.041), but the causal association of EN to IBD and CD could not be established. CONCLUSION: This investigation confirmed that IBD and CD had a causal connection with EN, whereas UC did not. In addition, EN may decrease the likelihood of UC. Further study must be performed to uncover the underlying pathophysiological mechanisms producing that connection.
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Colitis Ulcerosa , Enfermedad de Crohn , Eritema Nudoso , Análisis de la Aleatorización Mendeliana , Eritema Nudoso/genética , Eritema Nudoso/epidemiología , Eritema Nudoso/etiología , Humanos , Colitis Ulcerosa/genética , Colitis Ulcerosa/complicaciones , Enfermedad de Crohn/genética , Enfermedad de Crohn/complicaciones , Enfermedades Inflamatorias del Intestino/genética , Enfermedades Inflamatorias del Intestino/complicaciones , Causalidad , Polimorfismo de Nucleótido Simple , Predisposición Genética a la Enfermedad , Factores de RiesgoRESUMEN
BACKGROUND: Orf virus (ORFV) is the pathogen responsible for Orf, a zoonotic viral infection that can be spread to humans from sheep and goats. Here, we present a case of human Orf complicated by an immune-related reaction, to raise awareness of this under-recognized disease avoiding unnecessary investigations and overtreatment. CASE REPORT: A 51-year-old woman with no previous medical history presented with a one-week history of three asymptomatic swelling nodules with a grey necrotic center and red outer halo on her index finger. At physical examination there was also a pruritic papulovesicular eruption on her hands and feet. She reported a recent contact with a goat which had a similar nodular lesion in its mouth. A biopsy of the lesions was performed and a diagnosis of Orf complicated by widespread erythema multiforme was made based on the clinical and histopathological features. The lesions spontaneously resolved within the next 2 weeks. CONCLUSIONS: Orf is not very prevalent in our region, so we performed a biopsy of the lesion to guide us toward a diagnosis. However, we should remember that the diagnosis of ecthyma relies on clinical evaluation and epidemiological criteria.
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Ectima Contagioso , Eritema Multiforme , Exantema , Virus del Orf , Humanos , Femenino , Animales , Ovinos , Persona de Mediana Edad , Ectima Contagioso/diagnóstico , Ectima Contagioso/patología , Eritema Multiforme/complicaciones , Exantema/complicaciones , CabrasRESUMEN
BACKGROUND: Palmar-plantar erythrodysesthesia (PPE) is a slowly developing cutaneous reaction commonly experienced by patients treated with fluoropyrimidines. While erythrodysesthesia normally presents in a palmar-plantar distribution, it can also present with genital involvement, but this presentation is likely underreported and incorrectly attributed to an acute reaction from radiation therapy. This article aims to define erythrodysesthesia of the penis and scrotum as a rare but significant side effect of capecitabine. CASE PRESENTATION: We identified five cases of moderate to severe penis and scrotal erythrodysesthesia over a 2-year period at a large tertiary cancer center, representing an estimated incidence of 3.6% among male patients with rectal cancer who were treated with fluoropyrimidine-based chemoradiation within our institution. CONCLUSIONS: Improved understanding of erythrodysesthesia involving the penis and scrotum can facilitate early identification and treatment of symptoms, and possibly prevent the discontinuation or delay of cancer treatment in patients treated with capecitabine and similar drugs. These clinical advances would improve and prolong patient quality of life during cancer treatment and prevent complications that result in hospitalization.
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Capecitabina , Quimioradioterapia , Neoplasias del Recto , Escroto , Anciano , Humanos , Masculino , Persona de Mediana Edad , Capecitabina/efectos adversos , Quimioradioterapia/efectos adversos , Pene/patología , Pene/efectos de la radiación , Neoplasias del Recto/terapia , Neoplasias del Recto/tratamiento farmacológico , Escroto/patologíaRESUMEN
Cutaneous graft versus host disease (cGVHD) has substantial clinical and histopathologic overlap with erythema multiforme (EM), Stevens-Johnson syndrome (SJS), and toxic epidermal necrolysis (TEN). This overlap can make it difficult to distinguish these disorders in patients who have received hematopoietic transplants. We sought to evaluate the utility of Dp I/II immunohistochemical stain in differentiating EM/SJS/TEN and cGVHD in a large cohort. Skin biopsy specimens from patients with cGVHD (n = 58) and EM/SJS/TEN (n = 60) were evaluated for Dp I/II expression by immunohistochemistry. We found a statistically significant difference in Dp I/II staining between cGVHD (all grades) and EM/SJS/TEN (mean scores 1.62 and 2.14, respectively; p < 0.005), as well as between Grades 2 + 3 cGVHD and EM/SJS/TEN (mean scores 2.26 and 1.62, respectively; p < 0.005), while we did not find a significant difference between Grade 4 cGVHD and EM/SJS/TEN (mean scores 1.69 and 1.62, respectively; p = 0.71). Dp I/II immunostain may be useful for differentiating EM/SJS/TEN from Grade 2 and Grade 3 cGVHD, especially in clinically ambiguous cases without extracutaneous GVHD.
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Eritema Multiforme , Enfermedad Injerto contra Huésped , Síndrome de Stevens-Johnson , Humanos , Síndrome de Stevens-Johnson/diagnóstico , Síndrome de Stevens-Johnson/patología , Desmoplaquinas , Eritema Multiforme/diagnóstico , Eritema Multiforme/patología , Enfermedad Injerto contra Huésped/diagnóstico , Coloración y EtiquetadoRESUMEN
INTRODUCTION: Cutaneous adverse reactions to epidermal growth factor receptor inhibitors (EGFRi) are some of the most common side effects that patients experience. However, cutaneous adverse reactions that cause dyspigmentation in patients have been rarely reported. Erythema dyschromicum perstans (EDP) is a rare pigmentary condition that causes ashy-grey hyperpigmented macules and patches, with a few cases reported from EGFRi in the literature. The disfiguration caused by this condition may negatively impact patients' quality of life. Our study aimed to describe the clinical characteristics of EDP induced by EGFRi to better recognize and manage the condition. METHODS: We conducted a multicenter retrospective review at three academic institutions to identify patients with EDP induced by EGFRi from 2017 to 2023 and included sixteen patients in our study. RESULTS: The median age of patients was 66 years old, with 63% female and 37% male (Table 1). The majority of our patients were Asian (88%). All patients had non-small cell lung cancer and most patients received osimertinib. Median time to EDP was 6 months. The most common areas of distribution were the head/neck region, lower extremities, and upper extremities. Various topical ointments were trialed; however, approximately less than half had improvement in their disease and most patients had persistent EDP with no resolution. All patients desired treatment except one with EDP on the tongue, and there was no cancer treatment discontinuation or interruption due to EDP. Table 1 Patient demographics and clinical characteristics of 16 patients with EDP induced by EGFRi Case no Demographics: age, race, and sex Fitzpatrick skin type Cancer type EGFR therapy Concomitant photosensitive drug(s) Time to EDP (months) Clinical features Distribution Symptoms Treatments and clinical course EDP status from most recent follow up 1 47 y/o Asian male III Stage IV NSCLC Erlotinib None Unknown Brown-blue-gray hyperpigmented patches Bilateral shins Left thigh Xerosis Pruritus Triamcinolone 0.1% ointment for 4 months, improvement of blue discoloration Tacrolimus 0.1% BID for 9 months, improvement but no resolution Ongoing 2 62 y/o Asian female IV Stage IV NSCLC Osimertinib None 4 Gray-brown hyperpigmented patches Bilateral arms Back Forehead Neck Right shin None Tacrolimus 0.1% ointment for 1 year with minor improvement Ongoing 3 69 y/o Asian female IV Stage IV NSCLC Osimertinib None 4 Gray-brown macules and patches Chest Face Forehead Bilateral legs None Tacrolimus 0.1% ointment for 10 months, no improvement Ongoing 4 79 y/o White male II Stage IV NSCLC Osimertinib None 15 Mottled grey-blue hyperpigmented patches and plaques with mild scaling Bilateral arms Back Forehead Neck None Photoprotection, no improvement Ongoing 5 69 y/o Asian female III Stage IV NSCLC Osimertinib Ibuprofen 4 Blue-grey hyperpigmented macules and patches Abdomen Bilateral arms None Tacrolimus 0.1% ointment for 7 months, no improvement Ongoing 6 65 y/o Asian male III Stage IV NSCLC Osimertinib None 20 Hyperpigmented blue gray macules and patches Helix Bilateral shins None Photoprotection, no improvement Ongoing 7 66 y/o Asian female IV Stage IV NSCLC Erlotinib TMP-SMX 6 Ashy grey-brown thin plaques Back Forehead None 2.5% hydrocortisone ointment for 8 months, resolved Resolved 8 82 y/o Asian male III Stage III NSCLC Erlotinib Simvastatin 20 Ash-grey hyperpigmented patches Dorsal feet Forehead Scalp None Photoprotection Ongoing 9 57 y/o Asian female III Stage II NSCLC Erlotinib None 1 Bue-grey discoloration Tongue None No intervention Ongoing 10 51 y/o Asian female III Stage IV NSCLC Osimertinib None 9 Blue-grey hyperpigmented macules and patches Bilateral arms Axillae Groin Neck Trunk None 2.5% hydrocortisone ointment, triamcinolone 0.1% ointment, photoprotection with mild improvement Ongoing 11 67 y/o Asian male III Stage IV NSCLC Osimertinib None 7 Gray-blue macules and patches with mild background erythema and scaling Bilateral arms Ears Face Bilateral shins None Triamcinolone 0.1% ointment, protection for 6 months with mild improvement Ongoing 12 75 y/o Asian female IV Stage III NSCLC Osimertinib TMP-SMX 3 Gray-blue hyperpigmented patches Bilateral arms Abdomen Back Face Bilateral shins Pruritus Triamcinolone 0.1% and betamethasone 0.01% with relief of pruritus, lesions unchanged Triluma cream 6 months, mild improvement Ongoing 13 42 y/o Asian male IV Stage IV NSCLC Afatinib TMP-SMX 24 Grey-brown hyperpigmented patches Back Face None Hydroquinone 4% cream for 2 years with mild improvement Ongoing 14 74 y/o White female III Stage II NSCLC Osimertinib Atorvastatin 4 Grey-brown hyperpigmented patches Bilateral legs Trunk None Photoprotection Ongoing 15 64 y/o Asian female IV Stage IV NSCLC Osimertinib None 3 Gray-brown hyperpigmentation Abdomen Bilateral arms Back Bilateral legs Pruritus Triamcinolone 0.1% cream; No change, minimal concern to patient Ongoing 16 52 y/o Asian female IV Stage IV NSCLC Osimertinib None 42 Gray hyperpigmented patches with digitate shape Abdomen Bilateral flanks None Triamcinolone 0.1% cream Ongoing NSCLC, non-small cell lung cancer, TMP-SMX, Trimethoprim/Sulfamethoxazole CONCLUSIONS: We highlight the largest case series describing EDP from EGFR inhibitors, which mostly affected Asian patients with lung malignancy and on EGFR tyrosine kinase inhibitors. Clinicians should be able to recognize this condition in their patients and assess how it is affecting their quality of life, and refer to dermatology to help with management.
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Carcinoma de Pulmón de Células no Pequeñas , Receptores ErbB , Neoplasias Pulmonares , Humanos , Masculino , Femenino , Anciano , Estudios Retrospectivos , Receptores ErbB/antagonistas & inhibidores , Neoplasias Pulmonares/tratamiento farmacológico , Persona de Mediana Edad , Carcinoma de Pulmón de Células no Pequeñas/tratamiento farmacológico , Eritema/inducido químicamente , Eritema/etiología , Acrilamidas/efectos adversos , Acrilamidas/administración & dosificación , Erupciones por Medicamentos/etiología , Anciano de 80 o más Años , Antineoplásicos/efectos adversos , Antineoplásicos/administración & dosificación , Inhibidores de Proteínas Quinasas/efectos adversos , Inhibidores de Proteínas Quinasas/administración & dosificación , Calidad de VidaRESUMEN
INTRODUCTION: Erythema nodosum (EN) is the most common form of panniculitis that predominantly affects the shins. While EN in atypical sites has been described by many authors, there are currently only case studies published on this topic. This study aimed to evaluate clinical differences between patients suffering from EN on the shins, compared to patients with EN in atypical locations. METHODS: We analyzed 105 patients in a retrospective, single-center study at a university hospital in Switzerland. Typical EN was defined as lesions, found only on the lower legs, while atypical EN as lesions on the upper legs, trunk, arms, or face, only or in addition to lesions on the lower legs. The patients were assessed for age, gender, dermatologic history, time until first medical consultation, time to diagnosis, and time until remission. Further, etiology, symptoms, and applied therapies were investigated. Findings were then compared between the typical and atypical EN cohorts. RESULTS: Overall, we included 70 patients (37.99 ± 15.67 [3-81] years) with EN solely on the shins and 35 patients (41.27 ± 16.85 [9-76] years) with EN on other locations. Interestingly, time until diagnosis was significantly shorter in atypical EN (p = 0.034, 1.14 ± 4.68 vs. 0.46 ± 1.14 months). Time to remission was similar in both groups (3.61 ± 2.73 vs. 3.05 ± 2.86 months, respectively). Sarcoidosis was the only etiologic factor significantly more frequent in atypical EN compared to typical EN (23% vs. 9%, p = 0.042). Besides that, solely subtle differences were seen regarding etiology, gender, age at onset, course of the disease, and symptoms. CONCLUSIONS: Our study suggests that only minor alterations between both study populations exist. Significant differences were found in time to diagnosis (shorter for atypical EN), as well as in sarcoidosis as an etiologic factor (more frequent in atypical EN). While adalimumab was only prescribed in atypical EN cases, prognosis seems to be similar for typical and atypical EN (similar time to remission, similar amount of reoccurring cases). Due to the limited sample size, however, our study population may have been too small to detect the relevant differences, and bigger studies may be needed.
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Eritema Nudoso , Paniculitis , Sarcoidosis , Humanos , Eritema Nudoso/diagnóstico , Estudios Retrospectivos , Paniculitis/complicaciones , Paniculitis/diagnóstico , Paniculitis/patología , Resultado del TratamientoRESUMEN
PURPOSE: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary endocrine syndrome caused by pathogenic variants in MEN1 tumor suppressor gene. Diagnosis is commonly based on clinical criteria and confirmed by genetic testing. The objective of the present study was to report on a MEN1 case characterized by multiple pancreatic glucagonomas, with particular concern on the possible predisposing genetic defects. METHODS: While conducting an extensive review of the most recent scientific evidence on the unusual glucagonoma familial forms, we analyzed the MEN1 gene in a 35-year-old female with MEN1, as well as her son and daughter, using Sanger and next-generation sequencing (NGS) approaches. We additionally explored the functional and structural consequences of the identified variant using in silico analyses. RESULTS: NGS did not show any known pathogenic variant in the tested regions. However, a new non-conservative variant in exon 4 of MEN1 gene was found in heterozygosity in the patient and in her daughter, resulting in an amino acid substitution from hydrophobic cysteine to hydrophilic arginine at c.703T > C, p.(Cys235Arg). This variant is absent from populations databases and was never reported in full papers: its characteristics, together with the high specificity of the patient's clinical phenotype, pointed toward a possible causative role. CONCLUSION: Our findings confirm the need for careful genetic analysis of patients with MEN1 and establish a likely pathogenic role for the new p.(Cys235Arg) variant, at least in the rare subset of MEN1 associated with glucagonomas.
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Glucagonoma , Neoplasia Endocrina Múltiple Tipo 1 , Neoplasias Pancreáticas , Proteínas Proto-Oncogénicas , Adulto , Femenino , Humanos , Glucagonoma/genética , Glucagonoma/diagnóstico , Glucagonoma/patología , Neoplasia Endocrina Múltiple Tipo 1/genética , Mutación , Neoplasias Pancreáticas/genética , Linaje , Proteínas Proto-Oncogénicas/genéticaRESUMEN
BACKGROUND: Long wavelength ultraviolet-A1 in combination with visible light induces hyperpigmentation, particularly in dark-skin phototypes. This study evaluated the efficacy of four sunscreen formulations in protecting against VL + UVA1 (370-700 nm). METHODS: The test products (A-D) were applied to the back of 12 volunteers, then irradiated with 320 J/cm2 VL + UVA1 (3.5% UVA1 [370-400 nm]). Immediately after irradiation, and at Days 1, 7, and 14, erythema and pigmentation were assessed by investigator global assessment (IGA), colorimetry (Δa* and ΔITA) and diffuse reflectance spectroscopy (DRS)-measured relative dyschromia (area under the curve AUC). Control areas were irradiated without sunscreen. RESULTS: Product D, containing titanium dioxide 11%, iron oxides 1%, and antioxidants, provided the highest and most consistent protection. Compared with unprotected irradiated control, it had statistically significantly less erythema on IGA, DRS (Δoxyhemoglobin), and colorimetry (Δa*) at Day 0; less pigmentation on IGA at all time points, on DRS (relative dyschromia) at Days 7 and 14, and on colorimetry (ΔITA) at Day 0. Product B, containing zinc oxide 12% plus organic UV filters, iron oxides 4%, and antioxidants, also showed some efficacy. CONCLUSION: Of the sunscreens tested, the tinted products provided better protection against VL + UVA1 than the non-tinted products. Since the product with 1% iron oxides was superior to the product with 4% iron oxides, further studies are needed to evaluate whether iron oxide content correlates with better protection.
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Protectores Solares , Rayos Ultravioleta , Humanos , Protectores Solares/farmacología , Protectores Solares/química , Rayos Ultravioleta/efectos adversos , Luz , Eritema , Óxidos , Hierro , Inmunoglobulina A , Piel/efectos de la radiaciónRESUMEN
Erythema multiforme (EM) is an immune-mediated mucocutaneous condition characterized by hypersensitivity reactions to antigenic stimuli from infectious agents and certain drugs. The most commonly implicated infectious agents associated with EM include herpes simplex virus (HSV) and Mycoplasma pneumoniae. Other infectious diseases reported to trigger EM include human immunodeficiency virus (HIV) infection and several opportunistic infections. However, studies focusing on EM and human immunodeficiency virus (HIV) infection are scarce. even though the incidence of EM among HIV-infected individuals have increased, the direct and indirect mechanisms that predispose HIV-infected individuals to EM are not well understood. In turn, this makes diagnosing and managing EM in HIV-infected individuals an overwhelming task. Individuals with HIV infection are prone to acquiring microorganisms known to trigger EM, such as HSV, Mycobacterium tuberculosis, Treponema pallidum, histoplasmosis, and many other infectious organisms. Although HIV is known to infect CD4 + T cells, it can also directly bind to the epithelial cells of the oral and genital mucosa, leading to a dysregulated response by CD8 + T cells against epithelial cells. HIV infection may also trigger EM directly when CD8 + T cells recognize viral particles on epithelial cells due to the hyperactivation of CD8 + T-cells. The hyperactivation of CD8 + T cells was similar to that observed in drug hypersensitivity reactions. Hence, the relationship between antiretroviral drugs and EM has been well established. This includes the administration of other drugs to HIV-infected individuals to manage opportunistic infections. Thus, multiple triggers may be present simultaneously in HIV-infected individuals. This article highlights the potential direct and indirect role that HIV infection may play in the development of EM and the clinical dilemma that arises in the management of HIV-infected patients with this condition. These patients may require additional medications to manage opportunistic infections, many of which can also trigger hypersensitivity reactions leading to EM.
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Eritema Multiforme , Infecciones por VIH , Infecciones Oportunistas , Humanos , Infecciones por VIH/complicaciones , Infecciones por VIH/tratamiento farmacológico , Eritema Multiforme/diagnóstico , Eritema Multiforme/etiología , Simplexvirus , Infecciones Oportunistas/complicacionesRESUMEN
INTRODUCTION: Excessive sun exposure and sunburns are the main preventable causes of skin cancer. The growing popularity of outdoor sports in developed countries has motivated the objective of this work to study the risk of photoexposure and the skin cancer prevention needs of athletes in an extreme race and evaluate an intervention targeted at this population. METHODS: An observational study was conducted during the XXIII edition of the 101 km de Ronda race, which consisted of trail running and mountain biking categories. Environmental and personal dosimetry, monitoring of meteorological conditions, evaluation of the athletes' photoprotection and skin examination habits, a dermatological checkup, and a satisfaction questionnaire were performed. RESULTS: The ultra-endurance race was carried out under adverse conditions (maximum ultraviolet index (UVI) = 9.2, temperatures above 30°C, and relative humidity >35%). The mean effective erythema dose received by race athletes (n = 11) was 2959.2 ± 404.2 J/m2 , equivalent to 29.6 standard erythema doses (SED). The CHACES questionnaire (n = 1145) showed a sunburn rate of 58% and poor protective habits: 62.9% of athletes do not usually use sunscreen and 67.2% do not self-examine their skin. Actinic keratoses (4.7%) and suspicious skin cancer lesions (4.2%) were found in dermatologic screening exams (n = 170). On the satisfaction questionnaire (n = 111), this intervention was rated as excellent (95.5%). CONCLUSION: This research highlights the extreme risk of photoexposure that athletes are subjected to during ultra-endurance competitions. In the same way, it shows the need to carry out interventions aimed at the acquisition of healthy photoprotection habits and skin surveillance in this target group.
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Neoplasias Cutáneas , Quemadura Solar , Humanos , Exposición a Riesgos Ambientales , Quemadura Solar/prevención & control , Neoplasias Cutáneas/epidemiología , Protectores Solares/uso terapéutico , Eritema/etiologíaRESUMEN
BACKGROUND AND OBJECTIVE: Skin thermal diffusivity plays a crucial role in various applications, including laser therapy and cryogenic skin cooling.This study investigates the correlation between skin thermal diffusivity and two important skin parameters, melanin content and erythema, in a cohort of 102 participants. METHODS: An in-house developed device based on transient temperature measurement was used to assess thermal diffusivity at different body locations. Melanin content and erythema were measured using a colorimeter. Statistical analysis was performed to examine potential correlations. RESULTS: The results showed that the measured thermal diffusivity values were consistent with previous reports, with variations observed among subjects. No significant correlation was found between thermal diffusivity and melanin content or erythema. This suggests that other factors, such as skin hydration or epidermis thickness, may have a more dominant influence on skin thermal properties. CONLCUSION: This research provides valuable insights into the complex interplay between skin thermal properties and physiological parameters, with potential implications for cosmetic and clinical dermatology applications.
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Melaninas , Pigmentación de la Piel , Humanos , Piel/diagnóstico por imagen , Eritema , EpidermisRESUMEN
INTRODUCTION: Rosacea is a chronic inflammatory skin condition associated with erythema, inflammation and skin sensitivity. OBJECTIVES: To assess the benefit of a dermocosmetic cream (DC cream) containing Sphingobioma xenophaga extract and soothing agent in adult females with rosacea-associated erythema and sensitive skin. MATERIALS AND METHODS: During phase 1, DC was applied twice daily on the randomized half-face and compared to usual-skincare (USC) for 28 days. During phase 2, DC was applied on the full face twice daily for 56 days. Clinical, instrumental and skin sensitivity assessments were performed at all visits; demodex density (standardized skin surface biopsy (SSSB) method) was performed at baseline and D28, quality of life (QoL) was assessed using the stigmatization questionnaire (SQ), Rosacea Quality of Life index (ROSAQoL) and Dermatology Life Quality Index (DLQI) at baseline and D84. RESULTS: At D28, a significant benefit of DC over USC was observed for erythema, tightness, burning and stinging (all p ≤ 0.05), erythema measured by chromameter (p < 0.01), corneometry and transepidermal water loss (p < 0.0001 and p < 0.05, respectively), skin sensitivity (p < 0.001) and significant reduction of mean demodex density (p < 0.05) on the DC side. At D84, DC significantly (all p < 0.05) improved clinical signs and symptoms on both sides of the face compared to baseline; SQ, ROSAQoL and DLQI scores improved by 40.4%, 25.0% and 55.7%, respectively compared to baseline. Tolerance was excellent. CONCLUSION: DC significantly improved erythema, skin sensitivity, demodex count, QoL and feeling of stigmatization of subjects with rosacea and is very well tolerated.
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Eritema , Calidad de Vida , Rosácea , Crema para la Piel , Humanos , Rosácea/tratamiento farmacológico , Rosácea/complicaciones , Femenino , Persona de Mediana Edad , Adulto , Eritema/tratamiento farmacológico , Crema para la Piel/administración & dosificación , Animales , AncianoRESUMEN
BACKGROUND: Fractional picosecond lasers (FPL) are reported to be effective and safe for atrophic acne scars and post-acne erythema. However, there is no evidence regarding the effectiveness and safety of FPL treatment for non-acne atrophic scars and scar erythema among Chinese patients. METHODS: In this retrospective study, 12 Chinese patients with non-acne atrophic scars, including nine with scar erythema, were treated with one to three sessions of 1064 nm FPL treatment. Clinical improvement was objectively assessed through blinded evaluations by external physicians. A modified Manchester Scar Scale (mMSS) and the Clinician Erythema Assessment Scale (CEAS) were individually used to evaluate atrophic scars and scar erythema based on photographs. Physician-assessed and subject-assessed Global Aesthetic Improvement Scale (GAIS) were used to assess changes before and after FPL treatment. Patient satisfaction and adverse events were also documented. RESULTS: Total mMSS scores, as well as three parameters (color, distortion, and texture), were significantly decreased after FPL treatment, with a mean reduction of 3.18 ± 1.60 in total scores (p < 0.05). The CEAS scores were significantly reduced from 2.41 ± 0.98 before treatment to 0.41 ± 0.40 at the final visit (p < 0.05). Based on physician-assessed and subject-assessed GAIS scores, 11 (91.7%) patients were improved after FPL treatment. 33.3% of patients were very satisfied, and 41.7% were satisfied. No serious, prolonged (> 3 weeks) adverse events were observed. CONCLUSION: Our study suggests that 1064 nm FPL treatment may be a promising option for non-acne atrophic scars, especially with scar erythema. Further studies are needed to confirm our results.
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Cicatriz , Eritema , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Atrofia , China , Cicatriz/patología , Pueblos del Este de Asia , Eritema/etiología , Eritema/patología , Eritema/radioterapia , Terapia por Láser/métodos , Láseres de Estado Sólido/uso terapéutico , Terapia por Luz de Baja Intensidad/métodos , Satisfacción del Paciente , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
BACKGROUND/PURPOSE: Among the characteristics that appear in the epidermis of the skin, erythema is primarily evaluated through qualitative scales, such as visual assessment (VA). However, VA is not ideal because it relies on the experience and skill of dermatologists. In this study, we propose a new evaluation method based on hyperspectral imaging (HSI) to improve the accuracy of erythema diagnosis in clinical settings and investigate the applicability of HSI to skin evaluation. METHODS: For this study, 23 subjects diagnosed with atopic dermatitis were recruited. The inside of the right arm is selected as the target area and photographed using a hyperspectral camera (HS). Subsequently, based on the erythema severity visually assessed by a dermatologist, the severity classification performance of the RGB and HS images is compared. RESULTS: Erythema severity is classified as high when using (i) all reflectances of the entire HSI band and (ii) a combination of color features (R of RGB, a* of CIEL*a*b*) and five selected bands through band selection. However, as the number of features increases, the amount of calculation increases and becomes inefficient; therefore, (ii), which uses only seven features, is considered to perform classification more efficiently than (i), which uses 150 features. CONCLUSION: In conclusion, we demonstrate that HSI can be applied to erythema severity classification, which can further increase the accuracy and reliability of diagnosis when combined with other features observed in erythema. Additionally, the scope of its application can be expanded to various studies related to skin pigmentation.